Q58Q (p.Gln58Gln) variant of GJA1 (Gap junction alpha-1 protein)
Q58Q (p.Gln58Gln) in GJA1 (Gap junction alpha-1 protein) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
Q58Q (p.Gln58Gln) variant details
- p.Gln58Gln
- rs1457344718
- gnomAD 6-121447021-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.123
- CADD 6.04
- Population evidence available
- Structural context available
- Literature evidence available